R27C (p.Arg27Cys) variant of PSEN1 (Presenilin-1)
R27C (p.Arg27Cys) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pick disease; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs886050663
- ClinGen CA10635145
- ClinVar RCV000274293
- ClinVar RCV000357249
- Uncertain significance
- Pick disease; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.58
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Pick disease; Acne inversa, familial, 3; Frontotemporal dementia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)